Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders

Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

(2013) N Di Donato et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome

(2013) Ariadna Laguna et al.   HUMAN MOLECULAR GENETICS

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

(2012) Angelo Valetto et al.   European Journal of Medical Genetics

TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

(2012) Jean-Benoît Courcet et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

(2010) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

(2008) Rikke S. Møller et al.   AMERICAN JOURNAL OF HUMAN GENETICS